Autism and severe clinical phenotype in a patient with 8p21.2p11.21 deletion: Case report and literature review.
Aurora ArghirSorina Mihaela PapucAndreea-Cristina Tutulan-CunitaAlina ErbescuSara LoddoSilvia GenoveseLaura CioccaMarina GoldoniCarmelo PiscopoLaura BernardiniAntonio NovelliMagdalena BudisteanuPublished in: Clinical case reports (2020)
Interstitial 8p deletions were previously described, in literature and databases, in approximately 30 patients with neurodevelopmental disorders. We report on a novel patient with a 8p21.2p11.21 deletion presenting a clinical phenotype that includes severe intellectual disability, microcephaly, epilepsy, and autism, the latter having been rarely associated with this genetic defect.